Variant report

Variant	rs57911263
Chromosome Location	chr11:71588740-71588741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56850055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57396253	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57637306	0.85[AFR][1000 genomes]
rs60165720	0.92[AFR][1000 genomes]
rs60680251	0.84[AFR][1000 genomes]
rs60817117	0.84[AFR][1000 genomes]
rs60832878	0.86[AFR][1000 genomes]
rs7111712	0.92[AFR][1000 genomes]
rs7122344	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73544105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928351	0.90[AFR][1000 genomes]
rs7930602	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
11	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	esv11824	chr11:71515433-71603968	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv18828	chr11:71551614-71592576	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71571400-71594000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:71575600-71591600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:71579800-71613800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:71580000-71614200	Weak transcription	Ovary	ovary
5	chr11:71580400-71607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:71580400-71616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:71581200-71607000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:71581800-71615200	Weak transcription	Primary B cells from cord blood	blood
9	chr11:71582000-71602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:71583600-71602400	Weak transcription	Fetal Stomach	stomach
11	chr11:71585400-71598200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:71586000-71623000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:71586800-71624000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:71587000-71618600	Weak transcription	Dnd41	blood
15	chr11:71587000-71621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:71587400-71627400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:71587600-71593600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:71587600-71624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:71587800-71611400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:71588000-71622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:71588000-71623000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:71588400-71590000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:71588400-71614200	Weak transcription	Left Ventricle	heart
24	chr11:71588600-71624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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